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Term:combined oxidative phosphorylation deficiency 23
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Accession:DOID:0111500 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11. (DO)
Synonyms:exact_synonym: COXPD23
 primary_id: OMIM:616198
 alt_id: RDO:9001404
 xref: ORDO:444013
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combined oxidative phosphorylation deficiency 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtpbp3 GTP binding protein 3 JBrowse link 16 19,897,135 19,902,226 RGD:7240710

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  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 23 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal recessive disease 2106
                combined oxidative phosphorylation deficiency 23 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.